The recent breakthroughs in molecular genetics are heavily dependent on intense collaboration with top level clinical geneticists who are able to define and delineate the clinical phenotpe of the conditions investigated. There are very few clinical geneticists in Canada devoted to and capable of supporting the current intense research in medical genetics and I am one of them (see Appendix). My research contributions have centered on generating research questions based on interesting clinical cases and on translation of basic research findings to clinical practice. This work primarily deals with detection of different fetal abnormalities on ultrasound, molecular, chromosome analysis and fetal autopsy and postnatal newborns/children with different conditions and identifying the responsible gene mutations causing them, in collaboration with different research laboratories. My unique role in genetic research is highlighted through the following example:
Identifying the gene (transmembrane natriuretic peptide receptor NPR-B) causing acromesomelic dysplasia, type Maroteaux (AJHG 2004: 75:27-34).
The long-term prognosis of cases with mosaicism 45,X/46,XX and 45,X/46,XY is an important theme in my research. Many pregnancies with mosaicism 45,X/46,XX are terminated due to the lack of knowledge regarding the clinical manifestations and long-term prognosis of this condition. Research has shown that almost all babies with this chromosome abnormality are normal females. Further follow-up is being conducted through the MUG clinic, to find the implications of this chromosome abnormality on their pubertal development and reproduction. Similarly, many cases with mosaicism 45,X/46,XY detected prenatally resulted in pregnancy termination based on the biased finding that this chromosome abnormality is associated with ambiguous genitalia among other abnormalities. We found that most cases with this chromosome abnormality are normal males. We are currently following these patients to find whether they have an increased incidence of gonadoblastoma.Providing information regarding the clinical implications of prenatally diagnosed liver calcifications, (UOG 2006: 27:325-30), cardiac calcifications (Prenat Diagn 2005: 25: 539-42) and Cavum veli interpositi (Prenat Diagn 2005: 25: 539-42).